Polycystic kidney disease and the renal cilium (Review Article)

Abstract

Polycystic kidney disease (PKD) is a common genetic condition characterized by the formation of fluid-filled cysts in the kidney. Mutations affecting several genes are known to cause PKD and the protein products of most of these genes localize to an organelle called the renal cilium. Renal cilia are non-motile, microtubule-based projections located on the apical surface of the epithelial cells that form the tubules and ducts of the kidney. With the exception of intercalated cells, each epithelial cell bears a single non-motile cilium that projects into the luminal space where it is thought to act as a flow sensor. The detection of fluid flow through the kidney by the renal cilium is hypothesized to regulate a number of pathways responsible for the maintenance of normal epithelial phenotype. Defects of the renal cilium lead to cyst formation, caused primarily by the dedifferentiation and over-proliferation of epithelial cells. Here we discuss the role of renal cilia and the mechanisms by which defects of this organelle are thought to lead to PKD.